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FKRP-dependent glycosylation of fibronectin regulates muscle pathology in muscular dystrophy

Nature communications, 2021-05, Vol.12 (1), p.2951-2951, Article 2951

2021

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Value of insoluble PABPN1 accumulation in the diagnosis of oculopharyngeal muscular dystrophy

European journal of neurology, 2020-04, Vol.27 (4), p.709-715

2020

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MYH7-related myopathies: clinical, histopathological and imaging findings in a cohort of Italian patients

Orphanet journal of rare diseases, 2016-07, Vol.11 (1), p.91, Article 91

2016

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Fibroblasts from the muscles of Duchenne muscular dystrophy patients are resistant to cell detachment apoptosis

Experimental cell research, 2011-10, Vol.317 (17), p.2536-2547

2011

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P.20.9 Muscle fibrosis in the sgcb-null mouse model versus the mdx model

Neuromuscular disorders : NMD, 2013-10, Vol.23 (9), p.841-841

2013

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A fourth case of POMT2-related limb girdle muscle dystrophy with mild reduction of α-dystroglycan glycosylation

European journal of paediatric neurology, 2014-05, Vol.18 (3), p.404-408

2014

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P20.4 Antithetic role of miR-21 and miR-29 in the progression of fibrosis in Duchenne muscular dystrophy

Neuromuscular disorders : NMD, 2013-10, Vol.23 (9), p.839-840

2013

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590P Genetic heterogeneity in PLIN4 gene: characterization of a new pathogenic expansion causing an autophagic vacuolar myopathy

Neuromuscular disorders : NMD, 2024-10, Vol.43, p.104441, Article 104441.345

2024

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EM.P.3.04 Muscle-derived Duchenne muscular dystrophy fibroblasts show altered production of extra-cellular matrix components

Neuromuscular disorders : NMD, 2009-09, Vol.19 (8), p.575-575

2009

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VP.67 A novel adult-onset vacuolar myopathy caused by a large expansion of the PLIN4 gene- clinical, histological and imaging data

Neuromuscular disorders : NMD, 2022-10, Vol.32, p.S111-S112

2022

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580P SYNE-1 and SYNE-2 mutations: expanding the phenotype and genotype spectrum of Nesprin myopathy

Neuromuscular disorders : NMD, 2024-10, Vol.43, p.104441, Article 104441.335

2024

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60P Evaluation of aggrephagy markers in genetically defined myofibrillar myopathies

Neuromuscular disorders : NMD, 2024-10, Vol.43, p.104441, Article 104441.414

2024

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The transcriptome of cell cultures derived from muscle biopsies of controls and spastic patients is affected by botulinum toxin type A

Toxicon (Oxford), 2018-12, Vol.156, p.S82-S82

2018

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Potential role of exosomes in skeletal muscle fibrosis

Neuromuscular disorders : NMD, 2017-10, Vol.27, p.S169

2017

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P.245 - Potential role of exosomes in skeletal muscle fibrosis

Neuromuscular disorders : NMD, 2017-10, Vol.27, p.S169-S169

2017

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Cancer-associated Mutations in Congenital Pulmonary Malformations: A Prospective Cohort

American journal of respiratory and critical care medicine, 2023-03, Vol.207 (5), p.615-619

2023

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Predicting the risk of respiratory distress in newborns with congenital pulmonary malformations

The European respiratory journal, 2022-02, Vol.59 (2), p.2100949

2022

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Telethon Network of Genetic Biobanks: a key service for diagnosis and research on rare diseases

Orphanet journal of rare diseases, 2013-08, Vol.8 (1), p.129-129

2013

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Evaluating the activity of the Italian Mental Health Services inpatient and residential facilities: the PRISM (Process Indicator System for Mental health) indicators

Rivista di psichiatria, 2014-11, Vol.49 (6), p.265

2014

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Magnetism and stability of all primitive stacking patterns in bilayer chromium trihalides

Journal of physics. D, Applied physics, 2021-02, Vol.54 (6), p.64002

Gibertini, Marco

2021

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Magnetic 2D materials and heterostructures

Nature nanotechnology, 2019-05, Vol.14 (5), p.408-419

2019

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Emergence of One-Dimensional Wires of Free Carriers in Transition-Metal-Dichalcogenide Nanostructures

Nano letters, 2015-09, Vol.15 (9), p.6229-6238

2015

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Breakdown of Optical Phonons’ Splitting in Two-Dimensional Materials

Nano letters, 2017-06, Vol.17 (6), p.3758-3763

2017

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Prediction of a Large-Gap and Switchable Kane-Mele Quantum Spin Hall Insulator

Physical review letters, 2018-03, Vol.120 (11), p.117701-117701, Article 117701

2018

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Performance of arsenene and antimonene double-gate MOSFETs from first principles

Nature communications, 2016-08, Vol.7 (1), p.12585-12585, Article 12585

2016

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FKRP-dependent glycosylation of fibronectin regulates muscle pathology in muscular dystrophy

Value of insoluble PABPN1 accumulation in the diagnosis of oculopharyngeal muscular dystrophy

MYH7-related myopathies: clinical, histopathological and imaging findings in a cohort of Italian patients

Fibroblasts from the muscles of Duchenne muscular dystrophy patients are resistant to cell detachment apoptosis

P.20.9 Muscle fibrosis in the sgcb-null mouse model versus the mdx model

A fourth case of POMT2-related limb girdle muscle dystrophy with mild reduction of α-dystroglycan glycosylation

P20.4 Antithetic role of miR-21 and miR-29 in the progression of fibrosis in Duchenne muscular dystrophy

590P Genetic heterogeneity in PLIN4 gene: characterization of a new pathogenic expansion causing an autophagic vacuolar myopathy

EM.P.3.04 Muscle-derived Duchenne muscular dystrophy fibroblasts show altered production of extra-cellular matrix components

VP.67 A novel adult-onset vacuolar myopathy caused by a large expansion of the PLIN4 gene- clinical, histological and imaging data

580P SYNE-1 and SYNE-2 mutations: expanding the phenotype and genotype spectrum of Nesprin myopathy

60P Evaluation of aggrephagy markers in genetically defined myofibrillar myopathies

The transcriptome of cell cultures derived from muscle biopsies of controls and spastic patients is affected by botulinum toxin type A

Potential role of exosomes in skeletal muscle fibrosis

P.245 - Potential role of exosomes in skeletal muscle fibrosis

Cancer-associated Mutations in Congenital Pulmonary Malformations: A Prospective Cohort

Predicting the risk of respiratory distress in newborns with congenital pulmonary malformations

Telethon Network of Genetic Biobanks: a key service for diagnosis and research on rare diseases

Evaluating the activity of the Italian Mental Health Services inpatient and residential facilities: the PRISM (Process Indicator System for Mental health) indicators

Magnetism and stability of all primitive stacking patterns in bilayer chromium trihalides

Magnetic 2D materials and heterostructures

Emergence of One-Dimensional Wires of Free Carriers in Transition-Metal-Dichalcogenide Nanostructures

Breakdown of Optical Phonons’ Splitting in Two-Dimensional Materials

Prediction of a Large-Gap and Switchable Kane-Mele Quantum Spin Hall Insulator

Performance of arsenene and antimonene double-gate MOSFETs from first principles

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